a Laboratory of Neuroimmunology and Department of Brain and Behavioral Sciences , IRCCS Mondino Foundation and University of Pavia , Pavia , Italy.
b Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health , University Hospital of Padua , Padova , Italy.
Expert Rev Mol Diagn. 2018 Feb;18(2):181-193. doi: 10.1080/14737159.2018.1431124. Epub 2018 Jan 29.
N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most common autoimmune encephalitis due to autoantibodies against neuronal surface antigens, can affect both children and adults, leading to neurological and neuropsychological sequelae. However, it is potentially treatable and the prompt start of immunotherapy associates with better prognosis. Conversely, misdiagnosis can be harmful. The detection of NMDAR antibodies in serum and cerebrospinal fluid plays a pivotal role in the diagnostic work-up. Reliable methods for NMDAR antibody detection are thus fundamental to assure accurate diagnosis and allow early treatments. Areas covered: This review recapitulates the pathogenic mechanisms of NMDAR encephalitis as a model of antibody mediated synaptopathy, and gives insights into the related state-of-the-art laboratory testing. The differences in clinical presentations, tumor associations and responses to treatments between adults and children are also described. Expert commentary: The relevance of NMDAR encephalitis has placed neuroimmunology laboratories in a crucial position, but methods for NMDAR antibody detection are awaiting thorough and consensus-based standardizations. In the next few years, this process, along with novel insights into the pathogenic mechanisms, could improve the disease management and clarify the still pending role of NMDAR antibodies in healthy people and in other more common neuropsychiatric disorders.
N-甲基-D-天冬氨酸受体(NMDAR)脑炎是最常见的自身免疫性脑炎,由神经元表面抗原自身抗体引起,可影响儿童和成人,导致神经和神经心理后遗症。然而,它是潜在可治疗的,免疫治疗的及时启动与更好的预后相关。相反,误诊可能有害。血清和脑脊液中 NMDAR 抗体的检测在诊断工作中起着关键作用。因此,可靠的 NMDAR 抗体检测方法对于确保准确诊断和早期治疗至关重要。
本综述回顾了 NMDAR 脑炎作为抗体介导的突触病的发病机制,并深入了解相关的最新实验室检测。还描述了成人和儿童之间临床表现、肿瘤相关性和治疗反应的差异。
NMDAR 脑炎的相关性使神经免疫实验室处于关键地位,但 NMDAR 抗体检测方法仍有待全面和基于共识的标准化。在未来几年,这一过程以及对发病机制的新见解,可能会改善疾病管理,并阐明 NMDAR 抗体在健康人群和其他更常见的神经精神疾病中的作用仍存在争议。